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rs104886078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886078(G;T)
Make rs104886078(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580722
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886078
ebirs104886078
HLIrs104886078
Exacrs104886078
Varsomers104886078
Maprs104886078
PheGenIrs104886078
hapmaprs104886078
1000 genomesrs104886078
hgdprs104886078
ensemblrs104886078
gopubmedrs104886078
geneviewrs104886078
scholarrs104886078
googlers104886078
pharmgkbrs104886078
gwascentralrs104886078
openSNPrs104886078
23andMers104886078
23andMe allrs104886078
SNP Nexus

SNPshotrs104886078
SNPdbers104886078
MSV3drs104886078
GWAS Ctlgrs104886078
Max Magnitude0
ClinVar
Risk rs104886078(T;T)
Alt rs104886078(T;T)
Reference rs104886078(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823952G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021212.1,


[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM301050
Desc
Variant
Relatedalso